| Metadata | |
|---|---|
| ID | DOID:0111371 |
| Name | isolated hyperchlorhidrosis |
| Definition | A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis, https://www.ncbi.nlm.nih.gov/pubmed/21184099 |
| Xrefs |
SNOMEDCT_US_2023_03_01:709413001 |
| Subsets |
DO_rare_slim |
| Synonyms |
carbonic anhydrase XII deficiency [EXACT] HYCHL [EXACT] |
| Parent Relationships |
is_a skin disease |